C57BL/6JCya-Plcg2em1flox/Cya
Common Name:
Plcg2-flox
Product ID:
S-CKO-07768
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Plcg2-flox
Strain ID
CKOCMP-234779-Plcg2-B6J-VA
Gene Name
Product ID
S-CKO-07768
Gene Alias
PLC-gamma-2; PLCgamma2; Plcg-2
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
8
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Plcg2em1flox/Cya mice (Catalog S-CKO-07768) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000081232
NCBI RefSeq
NM_172285
Target Region
Exon 3~4
Size of Effective Region
~2.1 kb
Detailed Document
Overview of Gene Research
Plcg2, phospholipase C gamma 2, encodes a signaling protein crucial in NK-cell and B-cell signaling pathways [5]. It is involved in processes like B-cell receptor-induced calcium flux and extracellular signal-regulated kinase phosphorylation, which are vital for normal immune cell function [1].
Pathogenic variants of Plcg2 cause autosomal-dominant immune dysregulation, including PLCγ2-associated antibody deficiency and immune dysregulation (PLAID) and autoinflammatory PLAID (APLAID) [1]. Functional classification of its variants shows that three-fourths lead to functional alteration of B-cell activation in vitro. Gain-of-function (GOF) and monoallelic loss-of-function (LOF) variants are common, with LOF variants associated with a new phenotypic cluster of humoral immune deficiency, autoinflammation, herpesvirus susceptibility, and NK-cell dysfunction [1]. Heterozygous LOF variants can lead to a novel form of immune dysregulation [1]. In cherubism, GOF Plcg2 variants may be a novel genetic driver, expanding the phenotypic landscape of autoinflammatory PLAID [3]. In non-small cell lung cancer, eccDNA-derived Plcg2 is upregulated, acting as an oncogene and potentially a biomarker for diagnosis and prognosis evaluation [2]. In colorectal cancer, high Plcg2 expression is associated with poor prognosis, promoting tumor progression and immune escape, and its knockdown can potentiate immune checkpoint blockade therapy [4]. Human Plcg2 haploinsufficiency results in a novel NK-cell immunodeficiency with herpesvirus susceptibility, as shown by in vitro studies and Plcg2+/- mice [5].
In summary, Plcg2 is essential for normal immune cell function, with its variants having diverse impacts on immune-related diseases. Studies using in vitro models and mouse models, such as Plcg2+/- mice, have been crucial in revealing its role in immune dysregulation, cancer, and immunodeficiency diseases, providing insights into disease mechanisms and potential therapeutic targets.
References:
1. Baysac, Kathleen, Sun, Guangping, Nakano, Hiroto, Milner, Joshua D, Ombrello, Michael J. 2023. PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants. In The Journal of allergy and clinical immunology, 153, 230-242. doi:10.1016/j.jaci.2023.08.036. https://pubmed.ncbi.nlm.nih.gov/37769878/
2. Yang, Yongfeng, Yang, Ying, Huang, Hong, Zhang, Li, Li, Weimin. 2023. PLCG2 can exist in eccDNA and contribute to the metastasis of non-small cell lung cancer by regulating mitochondrial respiration. In Cell death & disease, 14, 257. doi:10.1038/s41419-023-05755-7. https://pubmed.ncbi.nlm.nih.gov/37031207/
3. Chester, Jennifer G, Carcamo, Benjamin, Gudis, David A, Chung, Wendy K, Milner, Joshua D. 2024. PLCG2 variants in cherubism. In The Journal of allergy and clinical immunology, 154, 1554-1558. doi:10.1016/j.jaci.2024.08.016. https://pubmed.ncbi.nlm.nih.gov/39197752/
4. Zhou, Xueliang, Lin, Joshua, Shao, Yanfei, Zhang, Sen, Sun, Jing. 2024. Targeting PLCG2 Suppresses Tumor Progression, Orchestrates the Tumor Immune Microenvironment and Potentiates Immune Checkpoint Blockade Therapy for Colorectal Cancer. In International journal of biological sciences, 20, 5548-5575. doi:10.7150/ijbs.98200. https://pubmed.ncbi.nlm.nih.gov/39494327/
5. Alinger, Joshua B, Mace, Emily M, Porter, Justin R, Orange, Jordan S, French, Anthony R. 2023. Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency. In The Journal of allergy and clinical immunology, 153, 216-229. doi:10.1016/j.jaci.2023.09.002. https://pubmed.ncbi.nlm.nih.gov/37714437/
Quality Control Standard
Sperm Test
Pre-cryopreservation: Measurement of sperm concentration, determination of sperm viability.
Post-cryopreservation: A vial of cryopreserved sperms is selected for in-vitro fertilization from each batch.
Environmental Standards:SPF
Available Region:Global
Source:Cyagen